KEGG   Homo sapiens (human): 4287Help
Entry
4287              CDS       T01001                                 

Gene name
ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3
Definition
ataxin 3 (EC:3.4.19.12)
Orthology
K11863  
Ataxin-3 [EC:3.4.22.-]
Organism
hsa  Homo sapiens (human)
Pathway
Protein processing in endoplasmic reticulum
Disease
H00063  
Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    4287 (ATXN3)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.22  Cysteine endopeptidases
    3.4.22.-  
     4287 (ATXN3)
Peptidases [BR:hsa01002]
 Cysteine Peptidases
  Family C86
   4287 (ATXN3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
14q21
AA seq 346 aa AA seqDB search
MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRT
FLQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNS
LLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEE
LAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQL
SMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHP
CERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK
NT seq 1041 nt NT seq  +upstreamnt  +downstreamnt
atggagtccatcttccacgagaaacaagaaggctcactttgtgctcaacattgcctgaat
aacttattgcaaggagaatattttagccctgtggaattatcctcaattgcacatcagctg
gatgaggaggagaggatgagaatggcagaaggaggagttactagtgaagattatcgcacg
tttttacaggttataagcaatgccttgaaagtttggggtttagaactaatcctgttcaac
agtccagagtatcagaggctcaggatcgatcctataaatgaaagatcatttatatgcaat
tataaggaacactggtttacagttagaaaattaggaaaacagtggtttaacttgaattct
ctcttgacgggtccagaattaatatcagatacatatcttgcacttttcttggctcaatta
caacaggaaggttattctatatttgtcgttaagggtgatctgccagattgcgaagctgac
caactcctgcagatgattagggtccaacagatgcatcgaccaaaacttattggagaagaa
ttagcacaactaaaagagcaaagagtccataaaacagacctggaacgagtgttagaagca
aatgatggctcaggaatgttagacgaagatgaggaggatttgcagagggctctggcacta
agtcgccaagaaattgacatggaagatgaggaagcagatctccgcagggctattcagcta
agtatgcaaggtagttccagaaacatatctcaagatatgacacagacatcaggtacaaat
cttacttcagaagagcttcggaagagacgagaagcctactttgaaaaacagcagcaaaag
cagcaacagcagcagcagcagcagcagcagggggacctatcaggacagagttcacatcca
tgtgaaaggccagccaccagttcaggagcacttgggagtgatctaggtgatgctatgagt
gaagaagacatgcttcaggcagctgtgaccatgtctttagaaactgtcagaaatgatttg
aaaacagaaggaaaaaaataa

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